Waardenburg syndrome

Introduction

Abnormal embryonic migration of auditory nerve cells.

Genetics

• autosomal dominant
• mutations in 2 genes encoding DNA-binding proteins
  • Pax-3 (type 1)
  • MITF (type 2A)

Clinical manifestations

• congenital sensorineural hearing loss
• dystopia canthorum (lateral displacement of the inner canthi of the eyes, but normal interpupillary distance)
• heterochromic irises
• broad nasal root
• piebaldism

More general terms

• genetic syndrome (multisystem disorder)

More specific terms

• Waardenburg syndrome type 1
• Waardenburg syndrome type 2
• Waardenburg syndrome type 3; Klein-Waardenburg syndrome; Waardenburg syndrome with upper limb anomalies or white forelock with malformations
• Waardenburg syndrome type 4 (Waardenburg-Shah syndrome)

Additional terms

• piebaldism (partial albinism)
• sensorineural hearing loss

Patient information

Waardenburg syndrome patient information